Associated Papers
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
34612482 (PubMed )
Supplement: dmm-14-048938-s1.pdf
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Smith RS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
34161264 (PubMed )
Supplement: pnas.2023333118.sapp.pdf
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N et al.
Cold Spring Harbor Molecular Case Studies, 2016
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dard R et al.
Developmental Medicine and Child Neurology, 2015
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT et al.
Pediatric Neurology, 2015
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H et al.
Neurology, 2014
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X et al.
Plos One, 2014
24842602 (PubMed )
Supplement: pone.0097274.s003.xlsx › Table_S1
Mutations in ATP1A3 cause alternating hemiplegia of childhood.
Aminkeng F
Clinical Genetics, 2013
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
Ishii A et al.
Plos One, 2013
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H et al.
The Lancet. Neurology, 2012
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